Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
NRAS p.Gln61Leu (p.Q61L)
(
ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways).
- Pubmed
- 23704925
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.430771415721826
- Year of publication
- 2013
Drugs